Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)

被引:65
作者
Coppin, BD [1 ]
Temple, IK [1 ]
机构
[1] PRINCESS ANNE HOSP, WESSEX CLIN GENET SERV, SOUTHAMPTON SO16 5YA, HANTS, ENGLAND
关键词
cardiomyopathy; deafness; lentigines; pulmonary stenosis;
D O I
10.1136/jmg.34.7.582
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome,(1) except in the most striking feature from which its name is derived. The less neutral but: very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al(2) to whom the major debt in the definition of this syndrome lies,(3) that is, Lentigines, ECG abnormalities, Ocular hypertelorism/Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in males, Retardation of growth, and Deafness. Not previously included in the mnemonic is cardiomyopathy which is an important feature because it is associated with significant mortality.
引用
收藏
页码:582 / 586
页数:5
相关论文
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